Schwannomatosis in a child--or early neurofibromatosis type 2

Abstract

A case of multiple cervical schwannomas in a five-year-old boy, without other evidence of neurofibromatosis type 2, is described. Schwannomatosis is a disorder characterized by the presence of multiple schwannomas in the absence of neurofibromatosis type 2 that has only been recognized in the last 15 years. The clinical and genetic features of neurofibromatosis types 1 and 2 and schwannomatosis are compared and contrasted. This patient with possible schwannomatosis is presented to illustrate the potential pitfalls of making this diagnosis in the paediatric age group and to increase awareness of the debate on whether this is a distinct entity or a form fruste of neurofibromatosis type 2.